Canonical Allele Identifier: CA413039641
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713209A>C (hg19) chrX:g.46853774A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853774A>C , CM000685.2:g.46853774A>C GRCh38
NC_000023.10:g.46713209A>C , CM000685.1:g.46713209A>C GRCh37
NC_000023.9:g.46598153A>C NCBI36
NG_009107.1:g.21863A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.401A>C MANE Select ENSP00000218340.3:p.Gln134Pro
ENST00000218340.3:c.401A>C ENSP00000218340.3:p.Gln134Pro
NM_006915.2:c.401A>C NP_008846.2:p.Gln134Pro
NM_006915.3:c.401A>C MANE Select NP_008846.2:p.Gln134Pro
Search 100 bp 5'
Search 100 bp 3'